Skip to main content

Advertisement

SpringerLink
Log in

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria

  • Original Paper
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who died suddenly between 7 days and 12 months of age and whose cause of death could not be identified. 17-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay and positive samples were subsequently genotyped. Three infants out of 242 may have had unrecognized CAH due to CYP21 (steroid 21-hydroxylase) gene defect. Their newborn 17-OHP levels and CYP21 genotypes were 706 nmol/l and del/conv//del/conv, 53 nmol/l and I2//I2, and 811 nmol/l and I2//Gln318stop, respectively. CAH due to CYP21 defect can lead to sudden unexpected death without prior symptoms typical for the condition. Hence, newborn screening would have prevented these deaths had it been available. In addition, we have shown that the I2 point mutation that is expected to lead to simple virilizing form may lead to a fatal outcome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

17-OHP:

17-hydroxyprogesterone

CAH:

Congenital adrenal hyperplasia

CYP21 :

Gene encoding steroid 21-hydroxylase

Del/conv//del/conv:

chimericCYP21/CYP21//chimericCYP21/CYP21

I2//I2:

656A/C > G//656A/C > G

I2//Gln318stop:

656A/C > G//Gln318stop

SIDS:

Sudden infant death syndrome

References

  1. Fitness J, Dixit N, Webster D, Torresani T, Pergolizzi R, Speiser PW, Day DJ (1999) Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 84:960–966

    Article  PubMed  CAS  Google Scholar 

  2. Gruneiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, Bergadá C (2001) Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Horm Res 55:271–277

    Article  PubMed  CAS  Google Scholar 

  3. Honour JW, Torresani T (2001) Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res 55:206–211

    Article  PubMed  CAS  Google Scholar 

  4. Hughes I (2002) Congenital adrenal hyperplasia: phenotype and genotype. J Pediatr Endocrinol Metab 15:1329–1340

    PubMed  CAS  Google Scholar 

  5. Kovács J, Votava F, Heinze G, Sólyom J, Lebl J, Pribilincová Z, Frisch H, Battelino T, Waldhauser F (2001) Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. J Clin Endocrinol Metab 86:2958–2964

    Article  PubMed  Google Scholar 

  6. Krous HF, Beckwith JB, Byard RW, Rognum TO, Bajanowski T, Corey T, Cutz E, Hanlick R, Keens TG, Mitchell EA (2004) Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics 114:234–238

    Article  PubMed  Google Scholar 

  7. Olgemöller B, Roscher AA, Liebl B, Fingerhut R (2003) Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab 88:5790–5794

    Article  PubMed  Google Scholar 

  8. Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon ICT, Dobbins RH, Kling S, Fujieda K, Suwa S (1988) Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81:866–874

    PubMed  CAS  Google Scholar 

  9. Ruppen W, Hagenbuch N, Jöhr M, Christen P (2003) Cardiac arrest in an infant with congenital adrenal hyperplasia. Acta Anaesthesiol Scand 47:104–105

    Article  PubMed  CAS  Google Scholar 

  10. Therrell BL, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, Gonzalez J, Gunn S (1998) Results of screening 1.9 million Texas newborns for 21-hydroxylase deficient congenital adrenal hyperplasia. Pediatrics 101:583–590

    Article  PubMed  Google Scholar 

  11. Torres N, Mello MP, Germano CMR, Elias LLK, Moreira AC, Castro M (2003) Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. Braz J Med Biol Res 36:1311–1318

    PubMed  CAS  Google Scholar 

  12. Török D, Mühl A, Votava F, Heinze G, Sólyom J, Crone J, Stöckler-Ipsiroglu S, Waldhauser F (2002) Stability of 17-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage. Clin Chem 48:370–372

    PubMed  Google Scholar 

  13. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245–291

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgements

The study was supported by research project MSM 0021620814. The stay of Dr. Strnadová in Vienna was financially supported by PRO INFANTIBUS. The authors are grateful to Dr. G. Köstl, Leoben Hospital, Austria, for his continued support and helpful discussions during the course of the study.

Author information

Authors and Affiliations

  1. Department of Pediatrics, 3rd Faculty of Medicine, Charles University, CZ-100 81, Prague, Czech Republic

    Kristina A. Strnadová, Felix Votava & Jan Lebl

  2. Division of Biochemical and Paediatric Genetics, Department of General Paediatrics, Medical University of Vienna, A-1090, Vienna, Austria

    Kristina A. Strnadová, Adolf Mühl, Chike Item, Olaf A. Bodamer & Franz Waldhauser

  3. Department of Endocrinology, University Children’s Hospital, Zurich, Switzerland

    Toni Torresani

  4. Department of Forensic Medicine, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic

    Ivan Bouška

  5. Department of General Pediatrics, Paracelsus Medical School, Landeskrankenhaus, Salzburg, Austria

    Wolfgang Sperl

Authors
  1. Kristina A. Strnadová
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Felix Votava
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jan Lebl
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Adolf Mühl
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Chike Item
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Olaf A. Bodamer
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Toni Torresani
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Ivan Bouška
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Franz Waldhauser
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Wolfgang Sperl
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kristina A. Strnadová.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Strnadová, K.A., Votava, F., Lebl, J. et al. Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. Eur J Pediatr 166, 1–4 (2007). https://doi.org/10.1007/s00431-006-0154-8

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-006-0154-8

Keywords

Search

Navigation